State University of New York at Buffalo
The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to determine whether level of GALC enzyme activity, or a specific genetic mutation predict the clinical course; and to determine which neurodiagnostic tests predict onset and/or severity of the disease.
The purported incidence of Krabbe disease is 1/250,000 live births. It is believed that 80-90% of affected children will have the early-infantile form of the disease. Other forms of the disease, however, occur throughout life. Unfortunately neither enzyme activity levels nor specific genetic mutation reliably predict phenotype. Since the only treatment for Krabbe disease is bone marrow transplantation, it is crucial to be able to identify prognostic factors, which will accurately predict the disease course. At this time the medical literature is limited regarding the clinical signs and symptom…
Inclusion Criteria: * Anyone diagnosed with Krabbe disease * Anyone at-risk for Krabbe disease * Family members of someone diagnosed with, or at-risk for, Krabbe disease. Exclusion Criteria: * Anyone who is not diagnosed with, or at-risk for, Krabbe disease * Anyone who is not a family member of someone diagnosed with, or at-risk for, Krabbe disease
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